Genomic variant #0001988358

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.134990701G>A
Reference Copied from the Exome Variant Server
DB-ID SAGE1_000136
Frequency 8/10563
Freq. EA 0/6728
Freq. AA 8/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAGE1 NM_018666.2 ?/? c.1366G>A r.(?) p.(Val456Ile)